DDX39B, DExD-box helicase 39B, 7919

N. diseases: 50; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.130 GeneticVariation disease GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.130 GeneticVariation disease GWASDB REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis. 19503088 2009
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.130 Biomarker disease LHGDN BAT1 promoter polymorphism is associated with rheumatoid arthritis susceptibility. 18381799 2008
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.130 Biomarker disease BEFREE The role of BAT1 in the regulation of tumor necrosis factor-a suggests that BAT1 may regulate the inflammatory response observed in patients with RA. 18381799 2008
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.130 GeneticVariation disease GWASDB TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. 17804836 2007
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.130 AlteredExpression disease BEFREE Overexpression of BAT1 mRNA was associated with carriers of a haplotype containing the LST1 marker transmitted to RA cases in a family study and also DRB1(*)15 associated with susceptibility to nephritis in systemic lupus erythematosus. 16971954 2006
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.130 Biomarker disease BEFREE In this critical segment, four expressed genes have been thus far identified, NFKBIL1 (IkappaBL), ATP6G, BAT1, and MICB, all of which are candidate genes for determining susceptibility to RA. 11170743 2001
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.120 GeneticVariation disease GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545 2007
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.120 GeneticVariation disease BEFREE DNA samples from healthy donors were used to confirm haplotypic associations with the type 1 diabetes-susceptible 8.1 ancestral haplotype (AH; HLA-A1,B8,BAT1-22*C,BAT1-348*C,DR3 ) and the diabetes-resistant 7.1 AH (HLA-A3,B7,BAT1-22*G,BAT1-348*T,DR15). 15028669 2004
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.120 Biomarker disease BEFREE BAT1 belongs to the DEAD-box family of proteins, and is encoded in the central region of the MHC, a region containing genes affecting immunopathological disorders including Type 1 diabetes. 12653967 2003
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0027121
Disease: Myositis
Myositis 		0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for myositis phenotypes. 26291516 2015
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic 		0.100 GeneticVariation disease GWASDB A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis. 23886662 2013
CUI: C0014518
Disease: Toxic Epidermal Necrolysis
Toxic Epidermal Necrolysis 		0.100 GeneticVariation disease GWASCAT A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients. 21912425 2013
CUI: C0038325
Disease: Stevens-Johnson Syndrome
Stevens-Johnson Syndrome 		0.100 GeneticVariation disease GWASDB A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients. 21912425 2013
CUI: C0038325
Disease: Stevens-Johnson Syndrome
Stevens-Johnson Syndrome 		0.100 GeneticVariation disease GWASCAT A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients. 21912425 2013
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		0.100 GeneticVariation phenotype GWASDB A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. 23817569 2013
CUI: C0004096
Disease: Asthma
Asthma 		0.100 GeneticVariation disease GWASDB [Genome-wide association study of allergic diseases in Russians of Western Siberia]. 21790008 2011
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.100 GeneticVariation disease GWASDB Identification of independent risk loci for Graves' disease within the MHC in the Japanese population. 21900946 2011
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.100 GeneticVariation disease GWASDB Genome-wide association study for vitiligo identifies susceptibility loci at 6q27 and the MHC. 20526339 2010
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.100 GeneticVariation disease GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
HIV-1, RESISTANCE TO 		0.100 GeneticVariation phenotype GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
CUI: C1836232
Disease: ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO 		0.100 GeneticVariation phenotype GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
CUI: C1836233
Disease: AIDS, PROGRESSION TO
AIDS, PROGRESSION TO 		0.100 GeneticVariation phenotype GWASDB The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. 21051598 2010
CUI: C1836230
Disease: HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO 		0.100 GeneticVariation disease GWASDB Common genetic variation and the control of HIV-1 in humans. 20041166 2009